FIFTH CROATIAN CONGRESS ON HUMAN GENETICS
June 20-21. 2011. Bol, Island of Brač, Croatia
ORGANISER:Croatian Society of Human Genetics, Croatian Medical Association,
Secretariat: Ljubica Odak, M.D., Children's Hospital Zagreb, Clinical Hospital Sisters of Mercy, 16
Klaiceva st, 10 000 Zagreb, Croatia; Tel . 385-1 4600 103, Fax 385-1 4600 160, e-mail:
ljubica.odak@zg.t-com.hr , Web: www.humana-genetika.org/
Acc. No. (HRK):: 236000-1101214818, call number: 268-425, OIB 60192951611
MONDAY, June 20
09.15-09.30 Opening ceremony
CYTOGENETICS AND CLINICAL GENETICS:
Chairs: Ingeborg Barisic, Ružica Lasan-Trčid
09.30-10.00 Schinzel A: WHAT DYSMORPHIC FEATURES TELL US ABOUT TIME AND NATURE
OF DISTURBANCE OF FETAL DEVELOPMENT
10.00-10.20 Ostojid S, Pereza N, Kapovid M, Peterlin B: CURRENT VIEWS ON GENETIC AND
EPIGENETIC ETIOLOGY OF RECURRENT SPONTANEOUS ABORTION
10.20-10.30 Pereza N, Ostojid S, Volk M, Kapovid M, Peterlin B: FUNCTIONAL SINGLE
NUCLEOTIDE POLYMORPHISMS IN PROMOTER REGIONS OF MATRIX METALLOPROTEINASE -
1,-2,-3 AND -9 GENES ARE RISK FACTORS FOR RECURRENT SPONTANEOUS ABORTION
10.30-10.45 Dumic K, Krnic N, Skrabic V, Stipancic G, Kusec V, Stingl K, Barisic I: CLASSICAL
CONGENITAL ADRENAL HYPERPLASIA DUE TO 21-HYDROXYLASE DEFICIENCY IN CROATIA
BETWEEN 1995 AND 2010
10.45-11.00 Roganovid J, Barišid N, Jonjid N: ANGIOKERATOMA IN FABRY DISEASE:
DIAGNOSTIC BUT NOT TREATMENT EFFECTIVENESS MARKER
11.00-11.15 Šmigovec I, Đapid T, Kubat O, Antičevid D: ORTHOPAEDIC TREATMENT OF
METABOLIC BONE DISEASES
11.15-11.30 DISCUSSION
11.30-12.00 COFEE BREAK
Chairs: Sanda Huljev-Frkovid, Leona Morozin-Pohovski
12.00-12.30 Zuffardi O: FROM GENOME-WIDE ARRAY TO NEXT GENERATION SEQUENCING
12.30-12.45 Morozin- Pohovski L, Barisic I: SCREENING OF PATIENTS WITH MENTAL
RETARDATION USING SUBTELOMERIC MLPA ASSAY
12.45-13.00 Božina N: PHARMACOGENOMICS AND ITS POTENTIAL APPLICATION IN
PERSONALIZED MEDICINE
13.00-13.15 Lasan Trcic R, Rajid L, Femenid R, Bilid E, Dubravčid K, Zadro R, Batinid D, Konja J,
Begovid D: CLASSICAL AND MOLECULAR CYTOGENETIC ANALYSIS IN 324 PEDIATRIC PATIENTS
WITH ACUTE LYMPHOBLASTIC LEUKAEMIA
13.15-13.30 Odak L, Barišid I, Morožin-Pohovski L, Sansovid I, Dumid K, Jakušid N, Klobučar A,
Grgurid J: DIAGNOSTIC ALGORITHM FOR CHILDREN WITH AUTISM
13.30-13.45 DISCUSSION
13.45-15.00 LUNCH BREAK
GENETIC EPIDEMIOLOGY, POPULATION GENETICS AND ANTROPOLOGY
Chairs: Nina Smolej Narančid, Marijana Peričid Salihovid
15.00-15.15 Peričid Salihovid M, Barešid A, Martinovid Klarid I, Cukrov S, Barad Lauc L, Janidijevid
B: TRACES OF MIGRATION FROM INDIA TO EUROPE AS WRITTEN IN THE MITOCHONDRIAL
DNA OF BAYASH ROMA
15.15-15.30 Barešid A, Peričid Salihovid M: MENDELIAN DISORDERS OF THE BAYASH ROMA
FROM CROATIA
15.30-15.45 Levačid Cvok M, Musani V, Sušac I, Ozretid P, Sabol M, Car D, Eljuga D, Eljuga L,
Levanat S: BRCA1 AND BRCA2 GERMLINE MUTATIONS IN WOMEN IN CROATIA WITH
HEREDITARY PREDISPOSITION TO BREAST AND OVARIAN CANCER
15.45-16.00 Vranekovid J, Babid Božovid I, Grubid Z, Wagner J, Pavlinid D, Dahoun S, Čulid V,
Brajenovid-Milid B: DOWN SYNDROME IN CROATIA: PARENTAL ORIGIN, RECOMBINATION,
AND MATERNAL AGE
16.00-16.15 DISCUSSION
16.15-16.45 COFFE BREAK
GENETIC COUNSELLING, PRENATAL DIAGNOSIS
Chairs: Vida Čulid, Bojana Brajenovid- Milid
16.45-17.15 Schinzel A: CONGENITAL DEFECTS IN TWINS:ETIOLOGY, SPECTRUM, GENETIC
COUNSELLING
17.15-17.30 Čulid V, Miškovid S, Zegarac Z, Mijaljica G, Kaštelan T, Pavelid J: POSITIVE
REPRODUCTIVE FAMILY HISTORY FOR SPONTANEOUS ABORTION - PREDICTOR FOR
RECURRENT ABORTIONS IN YOUNG COUPLES
17.30-17.45 Roje D, Kavelj M: THE FIRST FIVE YEARS EXPIRIENCE OF PRENATAL DIAGNOSIS IN
SPLIT, CROATIA: ANALYSIS AND EVALUATION OF THE RESULTS OBTAINED FROM AMNIOTIC
FLUID SAMPLES
17.45-18.00 Wagner J, Hercog R, Heffer M, Lauc G: NON-INVASIVE DETERMINATION OF FETAL
GENDER AND FETAL RHD STATUS FROM MATERNAL BLOOD
18.00-18.15 DISCUSSION
TUESDAY, June 21
MOLECULAR AND BIOCHEMICAL BASIS OF MONOGENIC AND COMPLEX DISEASES
Chairs: Ivo Barid, Jadranka Sertid
09.00-09.15 Barid I, Sarnavka V, Duk M, Bilid K, Petkovid Ramadža D, Martinac I, Zibar K,
Muačevid D: CHALLENGES IN DIAGNOSIS AND THERAPY OF INHERRITED DISORDERS OF
MITOCHONDRIAL ENERGY PRODUCTION
9.15-09.30 Borovečki F: GENOMIC APPROACHES TO DEVELOPMENT OF NEW DIAGNOSTIC
PARADIGMS IN NEURODEGENERATIVE DISEASES
09.30-09.45 Harjacek M, Lamot L, Frleta M, Gotovac K, Bingula F, Borovecki F: DIVERSE GENE
EXPRESSION IN PATIENTS WITH JUVENILE SPONDYLOARTROPATHY AND CLAVICULAR
CORTICAL HYPEROSTOSIS IS POSSIBLY RELATED TO AUTOINFLAMMATORY DISEASES
09.45-10.00 Sertid J, Božina T, Lovrid M, Jelakovid B, Božina N, Merkler A, Ljubid H, Reiner Ž:
METABOLIC SYNDROME: EFFECTS OF PPAR , APOE, LPL, IL-6, ACE AND AT1R GENE VARIANTS
10.00-10.15 Ristid S, Starčevid Čizmarevid N, Seplid J, Živkovid M, Stankovid A, Klupka-Šarid I,
Lovredid L, Peterlin B: PAI AND TPA GENE POLYMORPHISMS IN MULTIPLE SCLEROSIS
10.15-10.30 Buretid- Tomljanovid A: HUMAN GENOME ARCHITECTURE IN SCHIZOPHRENIA
AND OTHER NEUROPSYCHIATRIC DISORDERS
10.30-11.00 COFEE BREAK
11.00-11.15 Buretid-Tomljanovid A, Vranekovid J, Rubeša G, Jonovska S, Tomljanovid D,
Šendula-Jengid V, Kapovid M, Ristid S: HFE MUTATIONS AND TRANSFERRIN C1/C2
POLYMORPHISM AMONG CROATIAN PATIENTS WITH SCHIZOPHRENIA AND
SCHIZOAFFECTIVE DISORDER
11.15-11.30 Nadalin S, Jonovska S, Rubeša G, Devid S, Buretid-Tomljanovid A: IMPACT OF
CPLA2 AND COX-2 GENE POLYMORPHISMS ON ATTENUATED NIACIN SKIN-FLUSH RESPONSE
IN PATIENTS WITH SCHIZOPHRENIA
11.30-11.45 Babid Božovid I, Vranekovid J, Starčevid Čizmarevid N, Mahulja-Stamenkovid V,
Prpid I, Brajenovid-Milid B: MTHFR C677T AND A1298C POLYMORPHISMS AS A RISK FACTOR
FOR CONGENITAL HEART DEFECTS IN DOWN SYNDROME
11.45-12.00 Sansovid I, Barišid I: IMPROVED DETECTION OF DELETIONS/DUPLICATIONS IN THE
DMD GENE USING THE MULTIPLEX LIGATION-DEPENDENT PROBE AMPLIFICATION (MLPA)
METHOD
12.00-12.15 Bilid K, Zekušid M, Fumid K: THE IMPORTANCE OF OPTIMIZING METHODS FOR
MEASURING THE ACTIVITY OF ALPHA-ACID GLUCOSIDASE IN THE DIAGNOSIS OF POMPE
DISEASE
12.15-12.30 Toth O, Mrđenovid S, Heffer M: MOUSE MODELS FOR GANGLIOSIDE DEFICIENCY
12.30-12.45 DISCUSSION
12.45-14.00 LUNCH BREAK
14.00-15.30 CANCER GENETICS
Chairs: Jasminka Pavelid, Sanja Mrsid
14.00-14.15 Matijevic T, Pavelic J: THE DUAL ROLE OF TOLL-LIKE RECEPTOR 3 IN METASTATIC
CELL LINE
14.15-14.30 Slade N, Brdar B, Jelakovid B, Moriya M, Medverec Z, Tomid K , Karanovid S,
Vukovid I, Wu L,Grollman A: TP53 MUTATIONAL SIGNATURE OF ARISTOLOCHIC ACID IN THE
UPPER URINARY TRACT CARCINOMAS
14.30-14.45 Nikuševa Martid T, Pedina Šlaus N, Zeljko M, Tomas D: CHANGE OF THE NF2 GENE
IN NEURINOMAS
14.45-15.00 Čaban D, Rako I, Jakid-Razumovid J, Pleština S, Sertid J: THE ROLE OF
DETERMINING THE STATUS OF KRAS GENE IN COLORECTAL CANCER
15.00-15.15 Devid S, Flego V, Ristid S, Kapovid M, Radojčid Badovinac A: ACE I/D
POLYMORPHISM IN LUNG MALIGNANCY
15.15-15.30 DISCUSSION
15.30-16.00 COFFE BREAK
CROATIAN SOCIETY OF HUMAN GENETICS AND CROATIAN SOCIETY OF RARE DISEASE –
16.00-17.00 ROUND TABLE- Ivo Barid, Ingeborg Barišid, Ksenija Fumid, Miljenko Kapovid, Saša
Ostojid, Jelena Roganovid, Ana Stavljenid-Rukavina: RARE DISEASES IN CROATIA –
ACHIEVEMENTS AND PROSPECTS
17.00-17.15 ACKNOWLEDGEMENT TO YOUNG HUMAN GENETICIST FOR ORAL /POSTER
PRESENTATION FROM PROFFESSORS ZERGOLLERN-ČUPAK FOUNDATION
20.30. WELCOME RECEPTION, BORAK BEACH RESTAURANT
POSTERS
CYTOGENETICS AND CLINICAL GENETICS:
Kaštelan T, Čulid V, Lozid B: CHROMOSOME ABERRATIONS IN ACUTE VIRAL INFECTION
Miškovid S,Lasan R T, Lozid B, Kaštelan T, Mijaljica G, Čulid V:
FAMILIAL TRANSLOCATION WITHOUT PRENATAL DIAGNOSIS
Lozid B, Čulid V, Lasan R, Kaštelan T, Kuzmanid-Šamija R, Zemunik T: PURE TRISOMY 10P
RESULTING FROM AN EXTRA STABLE TELOCENTRIC CHROMOSOME
Wagner J, Stipoljev F, Puseljic S, Škrlec I, Heffer M, Liehr T: CHARACTERIZATION OF A FAMILIAL
CASE WITH COMPLEX CHROMOSOME REARRANGEMENT INVOLVING CHROMOSOMES 1, 10,
11, 13 AND 18
Odak L, Barišid I, Morožin-Pohovski L, Riegel M, Schinzel A: A NOVEL DE NOVO DIR DUP (16)
(Q12.1-Q21) IN A GIRL WITH BEHAVIORAL DISORDER, MILD COGNITIVE IMPAIRMENT,
SPEECH DELAY, AND DYSMORPHIC FEATURES: CASE REPORT AND REVIEW OF THE
LITERATURE
Omerza L, Huljev-Frkovid S, Sajko T, Lasan R, Crkvenac-Gornik K, Tonkovid-Ðuriševid I, Letica L,
Begovid D: CLINICAL REPORT: NEWBORN WITH PARTIAL TRISOMY 21Q21 AND PARTIAL
MONOSOMY 5P15.3 DUE TO BALANCED RECIPROCAL TRANSLOCATION 5;21 IN THE FATHER
Pereza N, Severinski S, Ostojid S, Volk M, Maver A, Baraba K, Kapovid M, Peterlin B: A RARE
CASE OF 8Q23.3-Q24.13 MICRODELETION WITH LANGER-GIEDION SYNDROME PHENOTYPE
WITHOUT TRPS1 GENE DELETION
Brbora I, Gabrid Pandurid D, Gabrid K, Žeko I, Miškovid S, Čulid V: ECTODERMAL DYSPLASIA-
FAMILY REPORT
Alsayed Z S, Culic V: JOUBERT SYNDROM AN INTERESTING COLLABORATION
GENETIC EPIDEMIOLOGY, POPULATION GENETICS AND ANTROPOLOGY
Bišof V, Peričid Salihovid M, Smolej Narančid N, Škarid-Jurid, Janidijevid B: WORLDWIDE SPREAD
OF THE TP53 GENE POLYMORPHISMS ARG72PRO AND INTRON 3 (+16BP)
Tomas Ž, Zajc M, Škarid-Jurid T, Rudan I, Rudan P, Smolej Narančid N: THE EVIDENCE OF
PROINFLAMMATORY AND PROTHROMBOTIC ROLE OF LEPTIN RECEPTOR GENE
Odak L, Barišid I, Loane M, Calzolari E, Garne E,Wellsey D, Dolk H: BECKWITH WIEDEMANN
SYNDROME: CLINICAL AND EPIDEMIOLOGICAL STUDY OF A LARGE SERIES OF PATIENTS IN
EUROPE
Ulovec Z, Jukid J, Skrinjaric T, Gorseta K: MINOR PHYSICAL ANOMALIES IN CHILDREN WITH
MENTAL RETARDATION, HEARING AND VISION IMPAIRMENT
GENETIC COUNSELLING, PRENATAL DIAGNOSIS
Kaštelan T, Čulid V, Lozid B, Milanovid D: PRENATAL DIAGNOSIS IN SPLIT
Pavid T: LIFE EXPECTANCY OF CHILDREN WITH CHROMOSOMAL ANOMALIES
Tonkovid Ðuriševid I, Crkvenac Gornik K, Letica L, Lasan R, Elveđi Gašparovid V, Malčid I, Begovid
D: THREE CASES OF TRIPLOIDY IN SECOND TRIMESTER OF PREGNANCY
MOLECULAR AND BIOCHEMICAL BASIS OF MONOGENIC AND COMPLEX DISEASES
Juričid L, Merkler A, Ljubid H, Cvitkovid L, Barišid N, Sertid J: MOLECULAR DIAGNOSTICS OF
SPINAL MUSCULAR ATROPHY (SMA) AND SMA CARRIERS BY DETERMININGTHE NUMBER OF
SMN1 AND SMN2 GENE COPIES
Juričid L, Merkler A, Ljubid H, Cvitkovid L, Čulid V, Barišid N, Relja M, Sertid J:
MOLECULAR DIAGNOSTICS OF SPINOCEREBELLAR ATAXIA TYPES 1, 2, 3, 6, 7
Ljubid H, Merkler A, Juričid L, Božina T, Čaban D, Acman A, Sertid J, Kalauz M: ATP7B GENE
MUTATIONS ASSOCIATED WITH INCIDENCE OF WILSON DISEASE IN CROATIAN POPULATION
Dumic K, Barisic I, Garg A: A PATIENT WITH ATYPICAL PROGERIA SYNDROME DUE TO
HETEROZYGOUS E159K MUTATION IN LMNA GENE
Crkvenac Gornik K, Grubid Z, Štingl K, Tonkovid Ðuriševid I, Begovid D: MICROSATELLITE LOCI
ON CHROMOSOME X AND THEIR APPLICATION FOR THE RAPID PRENATAL DETECTION OF
CHROMOSOME X NUMERIC ABNORMALITIES
Starčevid Čizmarevid N, Gašparovid I, Peterlin B, Sepčid J, Rudolf G, Kapovid M, Lavtar P,
Smiljana R: CTLA-4 +49 A/G GENE POLYMORPHISM IN CROATIAN AND SLOVENIAN MULTIPLE
SCLEROSIS PATIENTS
Lovrid M, Božina N, Hajnšek S, Sporiš D, Lalid Z, Granid P: EFFECTS OF ABCB1 DRUG
TRANSPORTER GENOTYPES ON ANTIEPILEPTIC DRUG DISPOSITION
CANCER GENETICS
Kurtovid-Kozarid A, Kozarid M, Bilalovid N: THE EFFICACY OF INTERPHASE FISH DIAGNOSTICS IN
PEDIATRIC ACUTE LEUKEMIAS OVER THE PERIOD OF TWO YEARS AT THE CLINICAL CENTER OF
THE UNIVERSITY OF SARAJEVO
Sola I, Lokosek V, Majic Z, Serman L PROLIFERATION OF DECIDUAL CELLS IN RAT EMBRYOS IS
GREATER BEFORE THAN AFTER GASTRULATION